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- Study Description
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Important Links and Information
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- Instructions for requestors
- Data Use Certification (DUC) Agreement
- Talking Glossary of Genetic Terms
Blood-derived DNA samples were collected from 603 members of large, multigenerational families, collected as part of the Centre d'Etude du Polymorphisme Humain (CEPH) consortium. These DNA samples were sequenced (using Illumina HiSeq technology) to a median genome-wide depth of 30X. Sequenced reads from each individual were aligned to the human reference genome (hg19), generating CRAM files for each individual. Variant calls in VCF format were obtained using the Genome Analysis Toolkit (GATK).
- Study Design:
- Prospective Longitudinal Cohort
- Study Type:
- Cohort
- dbGaP estimated ancestry using GRAF-pop
- Total number of consented subjects: 599
- Subject Sample Telemetry Report (SSTR)
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- Authorized Access
- Publicly Available Data
- Link to other NCBI resources related to this study
- Study Inclusion/Exclusion Criteria
CEPH/Utah families were ascertained to maximize family size. For a detailed description of the ascertainment strategy and goals of the original CEPH/Utah project, see Dausset, J., H. Cann, D. Cohen, M. Lathrop, J. M. Lalouel, and R. White. 1990. "Centre D'etude Du Polymorphisme Humain (CEPH): Collaborative Genetic Mapping of the Human Genome." Genomics 6 (3): 575-77. PMID: 2184120.
- Molecular Data
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Type Source Platform Number of Oligos/SNPs SNP Batch Id Comment Whole Genome Sequencing Illumina HiSeq X N/A N/A - Study History
A description of the history of the CEPH consortium and study design are described in detail in Dausset, J., H. Cann, D. Cohen, M. Lathrop, J. M. Lalouel, and R. White. 1990. "Centre D'etude Du Polymorphisme Humain (CEPH): Collaborative Genetic Mapping of the Human Genome." Genomics 6 (3): 575-77.PMID: 2184120.
- Selected Publications
- Diseases/Traits Related to Study (MeSH terms)
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- Primary Phenotype: Population Groups
- Authorized Data Access Requests
- Study Attribution
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Principal Investigator
- Lynn B. Jorde, PhD. Department of Human Genetics, University of Utah, Salt Lake City, UT, USA.
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Principal Investigator